PMID- 24366815 OWN - NLM STAT- MEDLINE DCOM- 20141007 LR - 20221207 IS - 1745-7270 (Electronic) IS - 1672-9145 (Linking) VI - 46 IP - 2 DP - 2014 Feb TI - Copy number variations of HLA-DRB5 is associated with systemic lupus erythematosus risk in Chinese Han population. PG - 155-60 LID - 10.1093/abbs/gmt137 [doi] AB - Systemic lupus erythematosus (SLE) is a polygenic, systemic, autoimmune disease. Copy number variants (CNVS) have been discovered to be associated with a number of complex disorders. We undertook the current study to explore the potential associations between genomic CNVS and SLE in Chinese Han population. In the discovery stage, seven SLE patients were examined with the high-density comparative genomic hybridization microarrays in the screening test for SLE associated CNVS. Then, in the validation stage, 135 SLE patients and 219 matched healthy subjects were investigated for the CNVS of gene HLA-DRB5 by AccuCopy technology. Quantitative polymerase chain reaction was carried out to determine the copy number (CN) and mRNA level of HLA-DRB5 in SLE patients. Although the mRNA level of HLA-DRB5 between the CN deletion group and the CN normal group in SLE patients was not statistically positive (P = 0.46), our results still showed more CN of HLA-DRB5 in SLE patients than in healthy controls (P = 3.98 x 10(-6)). Odds ratio for CN deletion was 0.38 (95% confidence interval (CI), 0.23-0.61, P = 7.79 x 10(-5)) and for CN duplication was 1.89 (95% CI, 0.56-7.66, P = 0.37), respectively. These findings indicated that CNVS of HLA-DRB5 was associated with the risk of SLE, and CN deletion appeared to be protective for SLE. FAU - Wu, Lijun AU - Wu L AD - Department of Digestive Diseases of Huashan Hospital, Fudan University, Shanghai 200040, China. FAU - Guo, Shicheng AU - Guo S FAU - Yang, Dongqin AU - Yang D FAU - Ma, Yanyun AU - Ma Y FAU - Ji, Hengdong AU - Ji H FAU - Chen, Yulin AU - Chen Y FAU - Zhang, Jun AU - Zhang J FAU - Wang, Yi AU - Wang Y FAU - Jin, Li AU - Jin L FAU - Wang, Jiucun AU - Wang J FAU - Liu, Jie AU - Liu J LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20131222 PL - China TA - Acta Biochim Biophys Sin (Shanghai) JT - Acta biochimica et biophysica Sinica JID - 101206716 RN - 0 (HLA-DRB5 Chains) SB - IM MH - Adult MH - Asian People/genetics MH - DNA Copy Number Variations MH - Female MH - Genetic Predisposition to Disease MH - HLA-DRB5 Chains/*genetics MH - Humans MH - Lupus Erythematosus, Systemic/*genetics/immunology MH - Male MH - Middle Aged MH - Risk OTO - NOTNLM OT - copy number variations OT - human leukocyte antigen OT - systemic lupus erythematosus EDAT- 2013/12/25 06:00 MHDA- 2014/10/08 06:00 CRDT- 2013/12/25 06:00 PHST- 2013/12/25 06:00 [entrez] PHST- 2013/12/25 06:00 [pubmed] PHST- 2014/10/08 06:00 [medline] AID - gmt137 [pii] AID - 10.1093/abbs/gmt137 [doi] PST - ppublish SO - Acta Biochim Biophys Sin (Shanghai). 2014 Feb;46(2):155-60. doi: 10.1093/abbs/gmt137. Epub 2013 Dec 22.